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  • 1
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary As part of an epidemiological study that aims to characterize chemically the mutation(s) in transthyretin (TTR) related to familial amyloidotic polyneuropathy (FAP) of different ethnic origins, studies were carried out on TTR from two FAP kindreds of Italian origin. Two different criteria were employed in the characterization of TTR from these kindreds: (1) immunoblotting of cyanogen bromide fragments for screening of TTR(Met30) and (2) isoelectric focusing. TTR(Met30) was not detected but other substitutions were demonstrated using isoelectric focusing techniques. One of the variants found is a basic TTR variant. The substitutions occurring in the variant TTRs of these two kindreds are not known and are presently under study.
    Type of Medium: Electronic Resource
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  • 2
    Electronic Resource
    Electronic Resource
    Springer
    Human genetics 〈Berlin〉 9 (1970), S. 241-244 
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Type of Medium: Electronic Resource
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  • 3
    Electronic Resource
    Electronic Resource
    Oxford, UK : Blackwell Publishing Ltd
    Annals of the New York Academy of Sciences 179 (1971), S. 0 
    ISSN: 1749-6632
    Source: Blackwell Publishing Journal Backfiles 1879-2005
    Topics: Natural Sciences in General
    Type of Medium: Electronic Resource
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  • 4
    ISSN: 1432-1459
    Keywords: Alzheimer's disease ; Apolipoprotein E ; Age at onset ; Relative risk
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract The effect of the apolipoprotein E (apoE) genotype on the age at onset of Alzheimer's disease (AD) and the relative risk conferred by the apoE ε4 allele were studied in 91 patients and 69 healthy age-matched controls. According to the age of presentation, which varied from 44 to 95 years, subjects were divided into four groups. The inheritance of at least one ɛ4 allele was associated with a significant reduction of the age at onset by 7.7 years among patients who were 83 years or older when examined. A weaker inverse relationship between the ɛ4 allele and the age at onset was also observed among patients who were aged 44–63 years at presentation. The effect of the c4 allele was minimal or absent in the two intermediate age categories. The relative risk of AD conferred by the inheritance of at least one £4 allele showed no consistent age-related pattern. The overall risk expressed as an odds ratio was 5.0 (95% CI 2.4–10.5). With respect to the limitations of the study, we tentatively conclude (1) that the effect of the apoE ɛ4 allele on the age at onset is not restricted to AD patients of a particular age, in accordance with current hypotheses on the role of apoE gene products in the biology of AD; (2) that the relative risk of AD associated with the ɛ4 allele is not significantly modulated by age. Although the apoE ɛ4 allele is an important susceptibility factor for AD occurring in middle age as well as in later life, it is of limited value in routine clinical diagnosis and should not be used for predictive testing in asymptomatic individuals.
    Type of Medium: Electronic Resource
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  • 5
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Description / Table of Contents: Zusammenfassung Als Beitrag zur Lösung technischer Probleme von Präventivprogrammen gegen häufige erbliche Hämoglobinopathien wurde ein schnelles und einfaches elektrophoretisches Screening-System entwickelt, das zur vollständigen Erfassung von gefährdeten Merkmalsträgern und/oder Risikofamilien in Populationen mit hoher Genfrequenz für diese molekularen Erkrankungen geeignet ist. Die Capillarblutsammlung einschließlich Hämolyse der Proben erfolgt mit einer Geschwindigkeit von 60 Proben pro Arbeitsstunde mit einem Materialaufwand von ca. $ 0.5 pro 1000 Proben (wenn die Lanzetten zur Punktion wiederverwendet werden). Die elektrophoretische Analyse von 1000 Proben erfolgt in 6 Arbeitsstunden bei einem Materialverbrauch von ca. $ 0.7. Die Dokumentation der Resultate von 1000 Analysen erfolgt in 2 Std bei Materialkosten von ca. $ 1.0. Diese Daten basieren auf Ergebnissen einer Screening-Untersuchung von 15000 Individuen in La Habana. Das hier beschriebene elektrophoretische System gestattet auch eine schnelle Analyse anderer Proteine und Enzyme.
    Notes: Summary As a solution to the technical aspect of the problem of how to reduce the incidence of frequent hemoglobinopathias and the risk of the gene carriers through detection by total ascertainment of the latter and medical counselling, a high speed electrophoretic screening system has been developed which is sufficiently rapid, safe and economical for the use in those countries most affected by these types of molecular disease. The collection of capillary blood and hemolysis of the samples proceeds at a speed of 60 samples per hour of work at a cost of $ 0.5 (if disposable lancets are reused) per 1000 samples. Electrophoresis of 1000 samples can be performed by one person within 6 hrs at a cost of $ 0.7. Documentation is performed within 2 hrs of work for 1000 samples at a cost of $ 1.0. These data were obtained as a result of analysing 15000 individuals of La Habana. The electrophoretic system also makes possible the rapid analysis of other proteins and enzymes.
    Type of Medium: Electronic Resource
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  • 6
    Electronic Resource
    Electronic Resource
    Springer
    Biochemical genetics 4 (1970), S. 321-338 
    ISSN: 1573-4927
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Chemistry and Pharmacology
    Notes: Abstract The serum enzyme pseudocholinesterase from 14 individuals of the rare phenotype S (silent gene) has been investigated by means of various biochemical and immunological techniques. By use of more sensitive methods than standard assays, it is demonstrated that the enzyme deficiency is not complete in all cases and that certain of the sera which contain trace amounts of enzyme activity differ with respect to their immunological reactions and their electrophoretic esterase pattern.
    Type of Medium: Electronic Resource
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  • 7
    Electronic Resource
    Electronic Resource
    Weinheim : Wiley-Blackwell
    Electrophoresis 7 (1986), S. 56-57 
    ISSN: 0173-0835
    Keywords: Chemistry ; Biochemistry and Biotechnology
    Source: Wiley InterScience Backfile Collection 1832-2000
    Topics: Biology , Chemistry and Pharmacology
    Notes: Lateral streaking or bending in vertical one-dimensional slab gel electrophoresis can be completely avoided if a comb-gel made up in electrophoresis buffer is placed on top of the stacking gel or sample gel.
    Additional Material: 3 Ill.
    Type of Medium: Electronic Resource
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  • 8
    Electronic Resource
    Electronic Resource
    Weinheim : Wiley-Blackwell
    Electrophoresis 9 (1988), S. 485-488 
    ISSN: 0173-0835
    Keywords: Chemistry ; Biochemistry and Biotechnology
    Source: Wiley InterScience Backfile Collection 1832-2000
    Topics: Biology , Chemistry and Pharmacology
    Notes: A new sample applicator for horizontal flat gels is described. The applicator is practically safe against contamination from adjacent samples and can be used for all types of electrophoretic separations including a concentration step for either the sample (i. e. disc electrophoresis) or the separated zones (i. e. isoelectric focusing). The applicator is a piece of flat glass with 26 or 51 parallel 2 mm wide grooves, drilled at distances of 9 or 4.5 mm. Samples, maximally 25 or 50. are applied to the areas between the grooves. By inverting the applicator, the samples are brought into close vicinity to the gel surface and the pendant droplets expand by capillary attraction into the slits between the glass and gel with resultant even distribution across the lanes of 2.5 or 7 mm width. The applicator can be used for separations with and without protection of the electrophoretic setup by paraffin oil and allows for fast multiple handling of samples by means of appropriate syringes and microtiter plates.
    Additional Material: 3 Ill.
    Type of Medium: Electronic Resource
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  • 9
    ISSN: 0173-0835
    Keywords: Chemistry ; Biochemistry and Biotechnology
    Source: Wiley InterScience Backfile Collection 1832-2000
    Topics: Biology , Chemistry and Pharmacology
    Notes: Polyacrylamide gels containing immobilized pH gradients (IPGs) are usually extensively washed in deionized water after polymerization and dried when longer storage is required. The original volume of the gel is readjusted by rehydration in water or a solution of appropriate composition and subsequent evaporation, if necessary, by using a fan for weight control. A more convenient procedure is to put the dried gels back into their casting mold used for polymerization and to fill the mold with the appropriate rehydrating solution. Rehydration to the original volume is completed within 30 min for gels of a thickness of 0.5 mm. With gels to be rehydrated in the presence of urea, it was found that water enters the gel matrix faster than urea; consequently, adjustment to the original gel volume at the required urea concentration is not possible in an excess of rehydration solution, but is easily achieved by the modified rehydration procedure. It was also possible to infuse a urea gradient into the gel matrix perpendicular to the pH gradient axis. The effect of urea on the patterns of inherited human prealbumin variants is demonstrated.
    Additional Material: 2 Ill.
    Type of Medium: Electronic Resource
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  • 10
    Electronic Resource
    Electronic Resource
    Weinheim : Wiley-Blackwell
    Electrophoresis 11 (1990), S. 140-147 
    ISSN: 0173-0835
    Keywords: Chemistry ; Biochemistry and Biotechnology
    Source: Wiley InterScience Backfile Collection 1832-2000
    Topics: Biology , Chemistry and Pharmacology
    Notes: The program “IPGMAKER” is a computational aid for creating and testing recipes for near-linear immobilized pH gradients. It was written for fast IBM personal computers (with a Type 80386 processor and 80387 coprocessor) and compatibles equipped with a VGA, EGA or Hercules (mono) graphics card. The program is limited to the use of up to 10 acids and/or bases, and to ranges spanning between pH 2 and 12. The resulting recipes are presented either as final concentrations in the 2 chambers of a mixing device for linear gradients or as volumes from 0.2 moles/L stock solutions adjusted to a user-defined average buffering power. One of the subroutines determines the pH, gradient slope and buffering capacity at any location of the gradient and includes a facility to estimate the pI of proteins from the composition of their primary structure.
    Additional Material: 11 Ill.
    Type of Medium: Electronic Resource
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